Life's Journey with Down Syndrome


 
HomeCalendarFAQSearchMemberlistUsergroupsRegisterLog in

Share | 
 

 Infantile Spasms and Down Syndrome research study opportunity

View previous topic View next topic Go down 
AuthorMessage
Larkinsmom

avatar

Number of posts : 67
Age : 50
Humor : dark
Registration date : 2009-02-14

PostSubject: Infantile Spasms and Down Syndrome research study opportunity   Wed Jan 13, 2010 9:27 am

St Louis Children's Hospital along with Washington University in St Louis is conducting a large base study of Infantile Spasms and Down syndrome. Larkin has been enrolled into the study and the Epologist and the Neurology team is looking for any and all of our kids who have had IS and DS to enroll. The link is here http://infantilespasms.wustl.edu for more information.

The following paragraph is from the doctor in charge of the study. He called me directly yesterday because he wants as many of our kids as possible. Please email me at amyarmstrong67@gmail.com if you want to talk more about it with more or the doc's info is at the bottom AND the website also has tons of information.

Thanks in advance - Amy

There has been very little study done on the genetic link between the seizures and DS and they hope by doing so they can isolate whatever link there might be in order to help children down the road. The challenge is to see why some children are affected more profoundly ie Larkin - and others resolve more easily. Speech seems to be a focus of this study as well.

Children with Down Syndrome have an increased risk of seizures in general, especially infantile spasms. We do not understand how infantile spasms develop in children with Down Syndrome, and we do not understand why infantile spasms in some children can lead to life-long problems with seizures, and other developmental issues such as autism. The main goal of our research is to study how the genetic blueprint may be affected in children with Down Syndrome, and how those changes may lead to infantile spasms. Our hope is to better understand these risk factors, and potentially develop new therapies down the road.

(I try not to be too detailed about all the many genetic tools we use, but encourage parents to visit our research website and contact me by email if they have questions.)

Again, thanks so much for your time and I would very much appreciate the opportunity in the future to bounce ideas off of you, and approach you as a resource for reaching parents.

All the best,


Alex Paciorkowski, M.D., FACMG
Instructor of Neurology
Washington University in St. Louis
Dept. of Neurology
Div. of Pediatric & Developmental Neurology
Campus Box 8111
660 South Euclid Ave.
St. Louis, MO 63110-1093

Office: (314) 454-6120
Fax: (314) 454-2523

Principal Investigator, Infantile Spasms Registry & Genetic Studies
Back to top Go down
View user profile http://www.larkinsplace.com
Carson's Mom



Number of posts : 6453
Age : 35
Registration date : 2009-01-26

PostSubject: Re: Infantile Spasms and Down Syndrome research study opportunity   Wed Jan 13, 2010 10:11 am

Sounds good. I hope that they are able to figure out how to STOP it.

Kayla
Back to top Go down
View user profile
 
Infantile Spasms and Down Syndrome research study opportunity
View previous topic View next topic Back to top 
Page 1 of 1
 Similar topics
-
» Heart/Pulminary Hypertension/Down Syndrome 33 weeker recently out of NICU needs milk
» Stockholm Syndrome - Blacksmith Bureau
» World War 1: Researching Canadian Soldiers and Units of the CEF
» Researching a WW1 Vet
» Need milk in Loudoun County for my RSS baby, lost 2/3 of my supply

Permissions in this forum:You cannot reply to topics in this forum
Life's Journey with Down Syndrome :: Things to think about! :: Down syndrome awareness-
Jump to: